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Human Disease

vitamin D-dependent rickets type 2A

Term ID
DOID:0080884
Synonyms
Definition
A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (2)
References
Ontology
Human Disease   ( DOID:0080884 )
Relationships
is a type of
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Genes Involved
Zebrafish Models